Canonical Allele Identifier: CA398531199

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.17215220A>G , CM000679.2:g.17215220A>G GRCh38
NC_000017.10:g.17118534A>G , CM000679.1:g.17118534A>G GRCh37
NC_000017.9:g.17059259A>G NCBI36
NG_008001.2:g.26969T>C , LRG_325:g.26969T>C

Transcript Alleles

HGVS Amino-acid Change
NM_144997.7:c.1397T>C (FLCN) MANE Select NP_659434.2:p.Val466Ala
ENST00000285071.9:c.1397T>C (FLCN) MANE Select ENSP00000285071.4:p.Val466Ala
NM_001353229.1:c.1451T>C (FLCN) NP_001340158.1:p.Val484Ala
NM_001353229.2:c.1451T>C (FLCN) NP_001340158.1:p.Val484Ala
NM_001353230.1:c.1397T>C (FLCN) NP_001340159.1:p.Val466Ala
NM_001353230.2:c.1397T>C (FLCN) NP_001340159.1:p.Val466Ala
NM_001353231.1:c.1397T>C (FLCN) NP_001340160.1:p.Val466Ala
NM_001353231.2:c.1397T>C (FLCN) NP_001340160.1:p.Val466Ala
NM_144997.5:c.1397T>C , LRG_325t1:c.1397T>C (FLCN) NP_659434.2:p.Val466Ala
NM_144997.6:c.1397T>C (FLCN) NP_659434.2:p.Val466Ala
ENST00000285071.8:c.1397T>C (FLCN) ENSP00000285071.4:p.Val466Ala
ENST00000427497.3:c.*231T>C ENSP00000394249.3:n.*231T>C
ENST00000578209.5:c.562-2270A>G (MPRIP)
XM_011523714.1:c.1451T>C (FLCN) XP_011522016.1:p.Val484Ala
XM_011523714.3:c.1451T>C (FLCN) XP_011522016.1:p.Val484Ala
XM_011523715.1:c.1451T>C (FLCN) XP_011522017.1:p.Val484Ala
XM_011523716.1:c.1451T>C (FLCN) XP_011522018.1:p.Val484Ala
XM_011523717.1:c.1451T>C (FLCN) XP_011522019.1:p.Val484Ala
XM_011523718.1:c.1451T>C (FLCN) XP_011522020.1:p.Val484Ala
XM_011523718.3:c.1451T>C (FLCN) XP_011522020.1:p.Val484Ala
XM_011523719.1:c.1451T>C (FLCN) XP_011522021.1:p.Val484Ala
XM_011523719.3:c.1451T>C (FLCN) XP_011522021.1:p.Val484Ala
XM_011523720.1:c.1175T>C (FLCN) XP_011522022.1:p.Val392Ala
XM_011523721.1:c.1451T>C (FLCN) XP_011522023.1:p.Val484Ala
XM_011523721.3:c.1451T>C (FLCN) XP_011522023.1:p.Val484Ala
XM_017024305.2:c.1451T>C (FLCN) XP_016879794.1:p.Val484Ala
XM_017024308.1:c.1397T>C (FLCN) XP_016879797.1:p.Val466Ala
XM_017024309.2:c.1175T>C (FLCN) XP_016879798.1:p.Val392Ala
XM_024450635.1:c.1451T>C (FLCN) XP_024306403.1:p.Val484Ala
XR_001752445.2:n.1831T>C (FLCN)
XR_934007.1:n.2667T>C (FLCN)